Canonical Allele Identifier: CA409249593

Gene: CTSA

Linked Data

• MyVariant Identifiers: chr20:g.44521490G>C (hg19) ; chr20:g.45892851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45892851G>C , CM000682.2:g.45892851G>C	GRCh38
NC_000020.10:g.44521490G>C , CM000682.1:g.44521490G>C	GRCh37
NC_000020.9:g.43954897G>C	NCBI36
NG_008291.1:g.6900G>C
NG_033108.1:g.3437C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.988G>C
ENST00000484855.4:n.621G>C
ENST00000493522.8:n.599G>C
ENST00000606066.3:n.1062G>C
ENST00000606782.3:n.692G>C
ENST00000607187.3:n.988G>C
ENST00000607212.3:n.782G>C
ENST00000607814.7:n.1307G>C
ENST00000677755.2:n.991G>C
ENST00000678622.2:n.988G>C
ENST00000678691.2:n.988G>C
ENST00000678988.2:n.1610G>C
ENST00000679053.2:n.988G>C
ENST00000679343.2:n.988G>C
ENST00000684198.1:n.988G>C
ENST00000372459.7:c.571G>C	ENSP00000361537.2:p.Val191Leu
ENST00000372484.8:c.625G>C	ENSP00000361562.3:p.Val209Leu
ENST00000419493.3:c.571G>C	ENSP00000408533.3:p.Val191Leu
ENST00000480961.2:n.598G>C
ENST00000484855.3:n.621G>C
ENST00000493522.7:n.599G>C
ENST00000606066.2:n.710G>C
ENST00000606394.6:c.*213G>C	ENSP00000475827.1:n.*213G>C
ENST00000606782.2:n.692G>C
ENST00000607187.2:n.502G>C
ENST00000607212.2:n.782G>C
ENST00000607482.6:c.571G>C	ENSP00000475524.2:p.Val191Leu
ENST00000607814.6:n.1307G>C
ENST00000646241.3:c.571G>C MANE Select	ENSP00000493613.2:p.Val191Leu
ENST00000676526.1:c.625G>C	ENSP00000504209.1:p.Val209Leu
ENST00000676597.1:c.571G>C	ENSP00000503904.1:p.Val191Leu
ENST00000676657.1:c.571G>C	ENSP00000504158.1:p.Val191Leu
ENST00000676967.1:c.571G>C	ENSP00000502866.1:p.Val191Leu
ENST00000677394.1:c.625G>C	ENSP00000504790.1:p.Val209Leu
ENST00000677525.1:c.*394G>C	ENSP00000504197.1:n.*394G>C
ENST00000677755.1:n.991G>C
ENST00000678025.1:c.571G>C	ENSP00000503463.1:p.Val191Leu
ENST00000678078.1:c.625G>C	ENSP00000502993.1:p.Val209Leu
ENST00000678217.1:c.571G>C	ENSP00000504109.1:p.Val191Leu
ENST00000678331.1:c.571G>C	ENSP00000504524.1:p.Val191Leu
ENST00000678443.1:c.571G>C	ENSP00000504006.1:p.Val191Leu
ENST00000678512.1:n.835G>C
ENST00000678622.1:n.616G>C
ENST00000678691.1:n.449G>C
ENST00000678939.1:c.571G>C	ENSP00000503404.1:p.Val191Leu
ENST00000678988.1:n.1610G>C
ENST00000679053.1:n.616G>C
ENST00000679343.1:n.609G>C
ENST00000191018.9:c.571G>C	ENSP00000191018.5:p.Val191Leu
ENST00000354880.9:c.574G>C	ENSP00000346952.4:p.Val192Leu
ENST00000372459.6:c.571G>C	ENSP00000361537.2:p.Val191Leu
ENST00000372484.7:c.625G>C	ENSP00000361562.3:p.Val209Leu
ENST00000419493.2:c.100G>C	ENSP00000408533.2:p.Val34Leu
ENST00000485627.1:n.232G>C
ENST00000606394.5:c.*213G>C	ENSP00000475827.1:n.*213G>C
ENST00000606782.1:n.204G>C
ENST00000606788.5:c.625G>C	ENSP00000476235.1:p.Val209Leu
NM_000308.2:c.625G>C	NP_000299.2:p.Val209Leu
NM_000308.3:c.625G>C	NP_000299.2:p.Val209Leu
NM_001127695.1:c.571G>C	NP_001121167.1:p.Val191Leu
NM_001127695.2:c.571G>C	NP_001121167.1:p.Val191Leu
NM_001167594.1:c.574G>C	NP_001161066.1:p.Val192Leu
NM_001167594.2:c.574G>C	NP_001161066.1:p.Val192Leu
NR_133656.1:n.1807G>C
NM_000308.4:c.571G>C MANE Select	NP_000299.3:p.Val191Leu
NM_001127695.3:c.571G>C	NP_001121167.1:p.Val191Leu
NM_001167594.3:c.520G>C	NP_001161066.2:p.Val174Leu
NR_133656.2:n.616G>C